Canonical Allele Identifier: CA2678231776

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33192344-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192344G>A , CM000668.2:g.33192344G>A	GRCh38
NC_000006.11:g.33160121G>A , CM000668.1:g.33160121G>A	GRCh37
NC_000006.10:g.33268099G>A	NCBI36
NG_011589.1:g.5125C>T
NG_023374.1:g.13312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.-104C>T MANE Select	ENSP00000339915.2:n.-104C>T
ENST00000341947.6:c.-104C>T	ENSP00000339915.2:n.-104C>T
ENST00000361917.5:c.-104C>T	ENSP00000355123.1:n.-104C>T
ENST00000374708.8:c.-104C>T	ENSP00000363840.4:n.-104C>T
ENST00000395194.1:c.-104C>T	ENSP00000378620.1:n.-104C>T
ENST00000457788.5:c.-104C>T	ENSP00000405520.1:n.-104C>T
NM_001163771.1:c.-104C>T	NP_001157243.1:n.-104C>T
NM_080679.2:c.-104C>T	NP_542410.2:n.-104C>T
NM_080680.2:c.-104C>T	NP_542411.2:n.-104C>T
NM_080681.2:c.-104C>T	NP_542412.2:n.-104C>T
XM_011514298.1:c.-765+681C>T	XP_011512600.1:n.-765+681C>T
XM_017010250.1:c.-66-38C>T	XP_016865739.1:n.-66-38C>T
NM_001163771.2:c.-104C>T	NP_001157243.1:n.-104C>T
NM_080680.3:c.-104C>T MANE Select	NP_542411.2:n.-104C>T
NM_080681.3:c.-104C>T	NP_542412.2:n.-104C>T
NM_080679.3:c.-104C>T	NP_542410.2:n.-104C>T